Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.510 ChromosomalRearrangement ORPHANET Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? 9598718

1998
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.330 GermlineCausalMutation ORPHANET FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465

2002